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Detection of hemoglobin H disease by long molecule sequencing

BACKGROUND: Hemoglobin H (Hb H) disease is a moderate‐to‐severe form of α‐thalassemia (α‐thal), and parts of patients may require intermittent transfusion therapy, especially during intercurrent illness. However, rare Hb H diseases remain undetected using routine methods being outside of the testing...

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Detalles Bibliográficos
Autores principales: Li, Youqiong, Liang, Liang, Qin, Ting, Tian, Mao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9550979/
https://www.ncbi.nlm.nih.gov/pubmed/36059093
http://dx.doi.org/10.1002/jcla.24687